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Association of common ATM variants with familial breast cancer in a South American population.
González-Hormazábal, Patricio; Bravo, Teresa; Blanco, Rafael; Valenzuela, Carlos Y; Gómez, Fernando; Waugh, Enrique; Peralta, Octavio; Ortuzar, Waldo; Reyes, Jose M; Jara, Lilian.
Afiliação
  • González-Hormazábal P; Human Genetics Program, Institute of Biomedical Sciences (ICBM), School of Medicine, University of Chile, Chile. pgonzalez@med.uchile.cl
BMC Cancer ; 8: 117, 2008 Apr 23.
Article em En | MEDLINE | ID: mdl-18433505
BACKGROUND: The ATM gene has been frequently involved in hereditary breast cancer as a low-penetrance susceptibility gene but evidence regarding the role of ATM as a breast cancer susceptibility gene has been contradictory. METHODS: In this study, a full mutation analysis of the ATM gene was carried out in patients from 137 Chilean breast cancer families, of which 126 were BRCA1/2 negatives and 11 BRCA1/2 positives. We further perform a case-control study between the subgroup of 126 cases BRCA1/2 negatives and 200 controls for the 5557G>A missense variant and the IVS38-8T>C and the IVS24-9delT polymorphisms. RESULTS: In the full mutation analysis we detected two missense variants and eight intronic polymorphisms. Carriers of the variant IVS24-9delT, or IVS38-8T>C, or 5557G>A showed an increase in breast cancer risk. The higher significance was observed in the carriers of IVS38-8T>C (OR = 3.09 [95%CI 1.11-8.59], p = 0.024). The IVS24-9 T/(-T), IVS38-8 T/C, 5557 G/A composite genotype confered a 3.19 fold increase in breast cancer risk (OR = 3.19 [95%CI 1.16-8.89], p = 0.021). The haplotype estimation suggested a strong linkage disequilibrium between the three markers (D' = 1). We detected only three haplotypes in the cases and control samples, some of these may be founder haplotypes in the Chilean population. CONCLUSION: The IVS24-9 T/(-T), IVS38-8 T/C, 5557 G/A composite genotype alone or in combination with certain genetic background and/or environmental factors, could modify the cancer risk by increasing genetic instability or by altering the effect of the normal DNA damage response.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Polimorfismo Genético / Neoplasias da Mama / Proteínas Serina-Treonina Quinases / Proteínas de Ciclo Celular / Predisposição Genética para Doença / Proteínas Supressoras de Tumor / Proteínas de Ligação a DNA Tipo de estudo: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans País/Região como assunto: America do sul / Chile Idioma: En Revista: BMC Cancer Assunto da revista: NEOPLASIAS Ano de publicação: 2008 Tipo de documento: Article País de afiliação: Chile País de publicação: Reino Unido
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Polimorfismo Genético / Neoplasias da Mama / Proteínas Serina-Treonina Quinases / Proteínas de Ciclo Celular / Predisposição Genética para Doença / Proteínas Supressoras de Tumor / Proteínas de Ligação a DNA Tipo de estudo: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans País/Região como assunto: America do sul / Chile Idioma: En Revista: BMC Cancer Assunto da revista: NEOPLASIAS Ano de publicação: 2008 Tipo de documento: Article País de afiliação: Chile País de publicação: Reino Unido